The emerging concept of mitochondrial cardiomyopathies.

Our purpose was to present an updated review on the spectrum of mitochondrial DNA-related syndromes relevant to cardiac disturbances. The advent of molecular genetics has provided important insight into the mechanisms underlying a variety of inherited heart disorders, including cardiac arrhythmias and cardiomyopathies. These studies pointed to defects in ion channels, contractile proteins, structural proteins, and signaling molecules as key players in disease pathogenesis, and they have opened up new mechanism-based approaches to therapy. Mitochondrial DNA defects and faulty oxidative phosphorylation are infrequently considered as causes of cardiomyopathies. This is surprising given the heavy dependence of the heart on oxidative metabolism and the recent advances in understanding the molecular features of mitochondrial disorders. This remarkable progress and the implications it may have for more common forms of cardiovascular disease are reviewed.